Incidental Mutation 'IGL02704:Ddah2'
ID304255
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddah2
Ensembl Gene ENSMUSG00000007039
Gene Namedimethylarginine dimethylaminohydrolase 2
SynonymsClone 7u, G6a, NG30, Ddah
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #IGL02704
Quality Score
Status
Chromosome17
Chromosomal Location35059035-35062095 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 35061007 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 158 (D158E)
Ref Sequence ENSEMBL: ENSMUSP00000007255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007255] [ENSMUST00000007257] [ENSMUST00000097337] [ENSMUST00000173207] [ENSMUST00000173520] [ENSMUST00000174190] [ENSMUST00000174493]
Predicted Effect possibly damaging
Transcript: ENSMUST00000007255
AA Change: D158E

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000007255
Gene: ENSMUSG00000007039
AA Change: D158E

DomainStartEndE-ValueType
PDB:2JAJ|B 1 282 1e-77 PDB
SCOP:d1h70a_ 13 277 1e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000007257
SMART Domains Protein: ENSMUSP00000007257
Gene: ENSMUSG00000007041

DomainStartEndE-ValueType
Pfam:GST_N_3 21 92 4.8e-11 PFAM
Pfam:GST_N_2 23 87 3.3e-10 PFAM
Pfam:GST_C_2 123 212 3.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097337
SMART Domains Protein: ENSMUSP00000094950
Gene: ENSMUSG00000073414

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
IG 20 121 3.27e0 SMART
low complexity region 145 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173207
SMART Domains Protein: ENSMUSP00000134194
Gene: ENSMUSG00000092586

DomainStartEndE-ValueType
low complexity region 22 39 N/A INTRINSIC
Blast:LU 48 136 3e-57 BLAST
low complexity region 139 151 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173520
SMART Domains Protein: ENSMUSP00000134595
Gene: ENSMUSG00000007039

DomainStartEndE-ValueType
Pfam:Amidinotransf 28 157 1.1e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173562
Predicted Effect probably benign
Transcript: ENSMUST00000174190
SMART Domains Protein: ENSMUSP00000133377
Gene: ENSMUSG00000073414

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
IG 20 121 3.27e0 SMART
low complexity region 145 160 N/A INTRINSIC
low complexity region 168 180 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174493
AA Change: D158E

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000134072
Gene: ENSMUSG00000007039
AA Change: D158E

DomainStartEndE-ValueType
Pfam:Amidinotransf 30 232 5e-27 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dimethylarginine dimethylaminohydrolase. The encoded enzyme functions in nitric oxide generation by regulating the cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. The protein may be localized to the mitochondria. Alternative splicing resulting in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice exhibit normal embryonic survival. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs G T 2: 93,842,926 P162Q probably damaging Het
Alb A G 5: 90,468,509 N291S possibly damaging Het
Ankar T C 1: 72,652,343 D935G possibly damaging Het
Atp13a5 A T 16: 29,251,328 C935* probably null Het
Bivm A T 1: 44,126,446 T19S probably benign Het
Dnah7b C T 1: 46,142,133 T1060I probably benign Het
Efhb T C 17: 53,426,269 T525A probably damaging Het
Exoc3 A G 13: 74,174,144 M604T probably benign Het
Frmpd1 T G 4: 45,285,082 I1301S possibly damaging Het
Gm5269 T C 1: 45,890,075 T2A probably benign Het
Hif3a T A 7: 17,050,761 probably benign Het
Hpgds A T 6: 65,123,637 L119* probably null Het
Iars A G 13: 49,721,100 D750G probably damaging Het
Ift43 T A 12: 86,161,177 D106E probably benign Het
Iqub T A 6: 24,505,910 probably benign Het
Lamb1 A G 12: 31,318,467 K1199E probably benign Het
Mast3 T A 8: 70,786,875 I395F probably damaging Het
Megf8 T C 7: 25,359,782 S2236P probably damaging Het
Met T A 6: 17,491,257 V6E possibly damaging Het
Muc5ac A T 7: 141,795,263 T479S possibly damaging Het
Myo7b T C 18: 31,966,961 T1623A probably benign Het
Neto1 T C 18: 86,473,823 L283P probably damaging Het
Olfr1104 T C 2: 87,022,277 Q89R probably benign Het
Olfr1287 A T 2: 111,449,147 E2D probably benign Het
Olfr720 T C 14: 14,175,483 I200V probably benign Het
Olfr917 G A 9: 38,665,767 P26S possibly damaging Het
Olfr954 T C 9: 39,462,283 V284A probably damaging Het
Onecut1 A G 9: 74,863,030 N245S probably damaging Het
Pkd1l1 A G 11: 8,834,910 V1958A probably benign Het
Plb1 C T 5: 32,353,667 A1292V probably benign Het
Plekha5 A G 6: 140,543,866 E223G probably damaging Het
Pou1f1 A T 16: 65,529,799 Q121L possibly damaging Het
Rbm25 G A 12: 83,642,726 G47D probably damaging Het
Rif1 T A 2: 52,093,576 M577K probably damaging Het
Scn8a A G 15: 101,008,062 E712G possibly damaging Het
Snx24 A G 18: 53,327,437 N29S probably benign Het
Tmem217 A T 17: 29,526,558 V66D probably damaging Het
Ttn T G 2: 76,767,641 N19643H probably damaging Het
Uimc1 T C 13: 55,030,959 T646A probably benign Het
Other mutations in Ddah2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00548:Ddah2 APN 17 35060631 missense possibly damaging 0.89
IGL02949:Ddah2 APN 17 35061800 missense probably damaging 0.97
R1196:Ddah2 UTSW 17 35061527 missense probably damaging 1.00
R1875:Ddah2 UTSW 17 35060845 missense probably damaging 1.00
R2018:Ddah2 UTSW 17 35060426 missense possibly damaging 0.57
R2225:Ddah2 UTSW 17 35060211 missense probably damaging 1.00
R2245:Ddah2 UTSW 17 35061585 missense probably damaging 1.00
R5826:Ddah2 UTSW 17 35060688 missense probably damaging 1.00
R7652:Ddah2 UTSW 17 35061050 missense possibly damaging 0.91
X0018:Ddah2 UTSW 17 35060667 missense probably benign 0.07
Posted On2015-04-16